PsyMuKB

Visualization of regulatory element with DNMs in transcripts

Visualization of de novo variants in transcripts

Visualization of original de novo CNV set

There is no corresponding data published yet, we will update it when such data available.

Transcripts

Transcript ID	Transcript exon region	Coding exon region
ENST00000317578	[[46268042, 46269369], [46269607, 46270413], [46271299, 46272484]]	[[46268758, 46269369], [46269607, 46270413], [46271299, 46272102]]
ENST00000560160	[[46268146, 46269369], [46271299, 46271885]]	[[46269188, 46269369], [46271299, 46271885]]
ENST00000560168	[[46268650, 46270413], [46271299, 46271370], [46271972, 46272113]]	[[46270404, 46270413], [46271299, 46271370], [46271972, 46272102]]
NM_175875	[[46268042, 46269369], [46269607, 46270413], [46271299, 46272497]]	[[46268758, 46269369], [46269607, 46270413], [46271299, 46272102]]

Promoter

Chrom	Start	End	Description
chr19	46271505	46271575	CAGE_peak_2_at_SIX5_5end
chr19	46272106	46272115	CAGE_peak_3_at_SIX5_5end
chr19	46272462	46272562	CAGE_peak_1_at_SIX5_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I044844	44844361	44851667	2.66	[{'connected_gene': 'NECTIN2', 'score': 570.87}, {'connected_gene': 'GC19P044850', 'score': 550.77}, {'connected_gene': 'ZNF180', 'score': 150.44}, {'connected_gene': 'ZNF45', 'score': 127.15}, {'connected_gene': 'ZNF225', 'score': 92.67}, {'connected_gene': 'CLASRP', 'score': 84.84}, {'connected_gene': 'ZNF224', 'score': 73.85}, {'connected_gene': 'ZNF234', 'score': 73.19}, {'connected_gene': 'ZNF284', 'score': 72.14}, {'connected_gene': 'FBXO46', 'score': 66.69}, {'connected_gene': 'LOC100505715', 'score': 65.68}, {'connected_gene': 'ENSG00000269148', 'score': 59.62}, {'connected_gene': 'ZNF285', 'score': 51.45}, {'connected_gene': 'ZNF227', 'score': 40.94}, {'connected_gene': 'ZNF230', 'score': 38.93}, {'connected_gene': 'ENSG00000267191', 'score': 38.61}, {'connected_gene': 'ZNF235', 'score': 33.02}, {'connected_gene': 'ZNF112', 'score': 32.08}, {'connected_gene': 'ZNF223', 'score': 30.34}, {'connected_gene': 'LOC100379224', 'score': 29.45}, {'connected_gene': 'ZNF226', 'score': 28.29}, {'connected_gene': 'ZNF221', 'score': 23.43}, {'connected_gene': 'LOC101928063', 'score': 22.49}, {'connected_gene': 'CEACAM19', 'score': 21.85}, {'connected_gene': 'ENSG00000267114', 'score': 21.48}, {'connected_gene': 'MRPS15P2', 'score': 21.33}, {'connected_gene': 'SNRPD2', 'score': 19.26}, {'connected_gene': 'RELB', 'score': 12.19}, {'connected_gene': 'ZNF233', 'score': 11.1}, {'connected_gene': 'BCAM', 'score': 10.61}, {'connected_gene': 'ZNF222', 'score': 10.54}, {'connected_gene': 'DM1-AS', 'score': 10.45}, {'connected_gene': 'QPCTL', 'score': 10.41}, {'connected_gene': 'ENSG00000259605', 'score': 9.97}, {'connected_gene': 'SIX5', 'score': 9.75}, {'connected_gene': 'BCL3', 'score': 1.53}, {'connected_gene': 'PIR35850', 'score': 0.44}]
chr19	GH19I045667	45667358	45669779	2.07	[{'connected_gene': 'GIPR', 'score': 555.51}, {'connected_gene': 'SNRPD2', 'score': 34.91}, {'connected_gene': 'CCDC61', 'score': 29.35}, {'connected_gene': 'DM1-AS', 'score': 24.01}, {'connected_gene': 'ENSG00000259605', 'score': 24.0}, {'connected_gene': 'ENSG00000268810', 'score': 23.94}, {'connected_gene': 'CLASRP', 'score': 15.84}, {'connected_gene': 'FBXO46', 'score': 15.68}, {'connected_gene': 'PPP1R13L', 'score': 14.33}, {'connected_gene': 'ENSG00000269148', 'score': 13.43}, {'connected_gene': 'IRF2BP1', 'score': 12.98}, {'connected_gene': 'SYMPK', 'score': 12.07}, {'connected_gene': 'SIX5', 'score': 11.74}, {'connected_gene': 'BCAM', 'score': 10.96}, {'connected_gene': 'ENSG00000267114', 'score': 10.22}, {'connected_gene': 'RELB', 'score': 10.14}, {'connected_gene': 'ERCC1', 'score': 9.94}, {'connected_gene': 'GC19P045675', 'score': 0.44}, {'connected_gene': 'GC19P045665', 'score': 0.44}]
chr19	GH19I045313	45313082	45314419	0.66	[{'connected_gene': 'FBXO46', 'score': 13.65}, {'connected_gene': 'ZNF180', 'score': 13.24}, {'connected_gene': 'CCDC61', 'score': 12.15}, {'connected_gene': 'EXOC3L2', 'score': 11.49}, {'connected_gene': 'CD3EAP', 'score': 10.5}, {'connected_gene': 'PPP1R13L', 'score': 10.5}, {'connected_gene': 'SIX5', 'score': 9.77}, {'connected_gene': 'DMWD', 'score': 5.86}, {'connected_gene': 'CKM', 'score': 0.44}, {'connected_gene': 'GC19M045307', 'score': 0.44}]
chr19	GH19I045798	45798898	45799758	1.02	[{'connected_gene': 'CLASRP', 'score': 17.82}, {'connected_gene': 'DMWD', 'score': 17.61}, {'connected_gene': 'CCDC61', 'score': 15.89}, {'connected_gene': 'ENSG00000269148', 'score': 15.03}, {'connected_gene': 'ENSG00000268810', 'score': 13.43}, {'connected_gene': 'SIX5', 'score': 12.03}, {'connected_gene': 'SYMPK', 'score': 11.35}, {'connected_gene': 'FOXA3', 'score': 11.35}, {'connected_gene': 'FBXO46', 'score': 10.26}, {'connected_gene': 'PIR50651', 'score': 0.77}, {'connected_gene': 'GC19M045805', 'score': 0.77}, {'connected_gene': 'RSPH6A', 'score': 0.37}]
chr19	GH19I045763	45763752	45773931	2.52	[{'connected_gene': 'DM1-AS', 'score': 558.07}, {'connected_gene': 'SIX5', 'score': 550.77}, {'connected_gene': 'CCDC61', 'score': 45.41}, {'connected_gene': 'SYMPK', 'score': 37.8}, {'connected_gene': 'FBXO46', 'score': 33.33}, {'connected_gene': 'ENSG00000268810', 'score': 32.89}, {'connected_gene': 'CLASRP', 'score': 30.2}, {'connected_gene': 'ENSG00000267114', 'score': 29.25}, {'connected_gene': 'ENSG00000269148', 'score': 23.4}, {'connected_gene': 'DMWD', 'score': 16.86}, {'connected_gene': 'PPP1R13L', 'score': 14.32}, {'connected_gene': 'DMPK', 'score': 13.17}, {'connected_gene': 'IRF2BP1', 'score': 11.66}, {'connected_gene': 'BHMG1', 'score': 11.22}, {'connected_gene': 'FOXA3', 'score': 11.06}, {'connected_gene': 'BCAM', 'score': 10.96}, {'connected_gene': 'QPCTL', 'score': 10.57}, {'connected_gene': 'SNRPD2', 'score': 10.35}, {'connected_gene': 'PRKD2', 'score': 10.03}, {'connected_gene': 'FKRP', 'score': 5.55}, {'connected_gene': 'GC19M045770', 'score': 0.77}, {'connected_gene': 'ENSG00000259605', 'score': 0.77}]
chr19	GH19I045715	45715902	45719276	1.61	[{'connected_gene': 'ENSG00000279407', 'score': 550.77}, {'connected_gene': 'ENSG00000268810', 'score': 23.79}, {'connected_gene': 'SNRPD2', 'score': 22.96}, {'connected_gene': 'CCDC61', 'score': 20.18}, {'connected_gene': 'QPCTL', 'score': 12.19}, {'connected_gene': 'SIX5', 'score': 11.8}, {'connected_gene': 'DMWD', 'score': 11.22}, {'connected_gene': 'ENSG00000269148', 'score': 11.05}, {'connected_gene': 'CLASRP', 'score': 11.0}, {'connected_gene': 'FBXO46', 'score': 10.84}, {'connected_gene': 'RELB', 'score': 10.14}, {'connected_gene': 'SYMPK', 'score': 9.97}, {'connected_gene': 'FOXA3', 'score': 9.97}, {'connected_gene': 'BHMG1', 'score': 0.44}]
chr19	GH19I045873	45873052	45874991	1.2	[{'connected_gene': 'GC19M045838', 'score': 550.77}, {'connected_gene': 'FBXO46', 'score': 13.71}, {'connected_gene': 'CCDC61', 'score': 12.25}, {'connected_gene': 'SLC1A5', 'score': 11.81}, {'connected_gene': 'SIX5', 'score': 9.87}, {'connected_gene': 'FOXA3', 'score': 0.39}]